 | THADDEUS P DryjaShow email addressCurrent affiliation: *TPD Cogan Eye Pathology Laboratory, Massachusetts Eye and Ear, Boston, Massachusetts, United States. | From the David G. Cogan Laboratory of Ophthalmic ... |
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THADDEUS P Dryja:Expert Impact
Concepts for whichTHADDEUS P Dryjahas direct influence:Retinitis pigmentosa,Rhodopsin gene,Retinoblastoma gene,Recessive mutations,Dominant retinitis pigmentosa,Macular degeneration,Retinoblastoma locus,Heterozygous carriers.
THADDEUS P Dryja:KOL impact
Concepts related to the work of other authors for whichfor which THADDEUS P Dryja has influence:Retinitis pigmentosa,Retinal degeneration,Gene expression,Photoreceptor cells,Cell cycle,Human pair,Retinoblastoma protein.
KOL Resume for THADDEUS P Dryja
| Year | |
|---|---|
| 2021 | Current affiliation: *TPD Cogan Eye Pathology Laboratory, Massachusetts Eye and Ear, Boston, Massachusetts, United States. From the David G. Cogan Laboratory of Ophthalmic Pathology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA. |
| 2019 | David G. Cogan Laboratory of Ophthalmic Pathology, Massachusetts Eye and Ear Infirmary/Harvard Medical School, Boston, MA, USA Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts |
| 2018 | David G. Cogan Ophthalmic Pathology Laboratory. Novartis Institutes for Biomedical Research, Cambridge, Massachusetts MIT Media Lab, 75 Amherst St, Cambridge, MA, USA |
| 2017 | Novartis Institutes for BioMedical Research, 02139, Cambridge, Massachusetts, USA |
| 2016 | Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston |
| 2015 | Ophthalmology Disease Area, Novartis Institutes for BioMedical Research , Cambridge, Massachusetts, USA. |
| 2014 | Novartis Institutes for Biomedical Research, Cambridge, Massachusetts, United States. |
| 2010 | Novartis Institutes for BioMedical Research, Cambridge, MA 02139, USA. The Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, USA |
| 2009 | Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA |
| 2008 | Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, 02114, Boston, Massachusetts, USA Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA |
| 2007 | Department of Ophthalmology, Harvard Medical School, and Massachusetts Eye and Ear Infirmary, Boston (Drs DeAngelis, Kim, Miller, and Dryja and Mr Adams) Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye & Ear Infirmary, Boston, MA, USA |
| 2006 | Ocular Molecular Genetics Institute, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts Departments of Ophthalmology (D.S.W., S.M., T.P.D.), Pediatrics (D.S.W., E.F.G.), and Radiation Oncology (J.E.M.), Harvard Medical School — all in Boston. |
| 2005 | Department of Ophthalmology and |
| 2004 | Ocular Molecular Genetics Institute and |
| 2003 | From the Department of Ophthalmology (E.J.D., M.N., I.K.G., A.S.T., T.P.D., J.C.A., C.H.D.), Harvard Medical School, Massachusetts Eye and Ear Infirmary, Schepens Eye Research Institute, Boston, Massachusetts, U.S.A.; Mayo Clinic (K.H.B.), Rochester, Minnesota, U.S.A. Human Molecular Genetics11, 1219–1227 (2002) |
| 2002 | Ocular Molecular Genetics Institute, Harvard Medical School and Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114 USA |
| 2001 | Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts |
| 2000 | Department of Ophthalmology, Harvard Medical School and the Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, U.S.A. |
| 1999 | Ocular Molecular Genetics Institute, Boston, Massachusetts, USA Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts |
| 1998 | Ocular Molecular Genetics Institute and Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, 02114, Boston, Massachusetts, USA |
| 1997 | Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, U.S.A. Ocular Molecular Genetics Institute, Massachusetts Eye and Ear Infirmary, Boston |
| 1996 | Ocular Molecular Genetics Institute and Taylor Smith Laboratory, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles St., 02114-3096, Boston, Massachusetts, USA Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, 02114 |
| 1995 | Howe Laboratory, Harvard Medical School and Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA |
| 1994 | Howe Laboratory of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA. Harvard Medical School and Massachusetts Eye and Ear Infirmary, 243 Charles Street, 02114, Boston, MA, USA |
| 1993 | Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114. Berman-Gund Laboratory for the Study of Retinal Degenerations and the Howe Laboratory of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, 02114, Boston, Massachusetts, USA |
| 1992 | Boston, Massachusetts |
| 1991 | Harvard Medical School, Department of Ophthalmology, Boston, Massachusetts 02114 USA Howe Laboratory of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston |
| Concept | World rank |
|---|---|
| larger visual fields | #1 |
| arrp lrat | #1 |
| rb1 carriers | #1 |
| rgr 11cis retinal45 | #1 |
| deletions single codons | #1 |
| mutations encode proteins | #1 |
| oguchi disease forms | #1 |
| chromosome recessive alleles | #1 |
| alleles fathers | #1 |
| rp1 sca7 | #1 |
| 30 dark adaptation | #1 |
| cells functional copies | #1 |
| bmd 3 utr | #1 |
| syndrome gfs | #1 |
| rgr müller | #1 |
| common identified 4 | #1 |
| pigmentosa amino | #1 |
| 8q11–13 north america | #1 |
| altered carboxy termini | #1 |
| pro347leu pro347ser | #1 |
| polymorphisms retinoblastoma | #1 |
| t17 mutation | #1 |
| arrestin cases | #1 |
| rp clinical features | #1 |
| genetically events | #1 |
| japanese patients1 | #1 |
| iris horner | #1 |
| impdh1 form | #1 |
| lps ocular | #1 |
| eukaryotes123456 | #1 |
| fd neutralizing | #1 |
| pigmentosa alleles | #1 |
| val345met disease | #1 |
| electron dominant humans | #1 |
| rds separate families | #1 |
| rflp rb locus | #1 |
| esd locus human | #1 |
| patients nonhereditary disease | #1 |
| rgs9 activity | #1 |
| impdh1 gene patients | #1 |
| lrat north america | #1 |
| 3 retinoblastomas | #1 |
| small pieces capability | #1 |
| tubby mice1–4 | #1 |
| 17 mutations disease | #1 |
| paternally derived copy | #1 |
| phe45leu | #1 |
| swedish impdh1 | #1 |
| complement mrna | #1 |
| subunit rod phosphodiesterase | #1 |
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Prominent publications by THADDEUS P Dryja
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
[ PUBLICATION ]
We determined the mutation spectrum of the RP2 and RPGR genes in patients with X-linked retinitis pigmentosa (XLRP) and searched for correlations between categories of mutation and severity of disease. We screened 187 unrelated male patients for mutations, including 135 with a prior clinical diagnosis of XLRP, 11 with probable XLRP, 30 isolate cases suspected of having XLRP, and 11 with cone-rod degeneration. Mutation screening was performed by single-strand conformation analysis and by ...
| Known for Rpgr Mutations | Retinitis Pigmentosa | Rp2 Exons | Xlinked Humans | Visual Acuity |
Cigarette Smoking, CFH, APOE, ELOVL4, and Risk of Neovascular Age-Related Macular Degeneration
[ PUBLICATION ]
OBJECTIVE: To examine if the genes encoding complement factor H (CFH), apolipoprotein E (APOE), and elongation of very-long-chain fatty acids-like 4 (ELOVL4) confer risk of neovascular age-related macular degeneration (AMD) in an independent or interactive manner when controlling for smoking exposure.
METHODS: We studied 103 unrelated patients with neovascular AMD who each had at least 1 sibling with normal maculae. Smoking histories were obtained. Genotyping was performed by analyzing ...
| Known for Cigarette Smoking | Neovascular Amd | Macular Degeneration | Complement Factor Cfh | Apoe Genotype |
OBJECTIVES: To determine if enhanced s-cone syndrome (ESCS), Goldmann-Favre syndrome (GFS), and clumped pigmentary retinal degeneration (CPRD) are caused by mutations in the NR2E3 gene and to characterize the clinical findings in patients with NR2E3 mutations. Patients One patient with ESCS, one with GFS, and 20 with CPRD.
METHODS: The coding regions of the NR2E3 and NRL genes and part of the THRB1 coding region were scanned for mutations using single-strand conformation and direct ...
| Known for Patients Nr2e3 Mutations | Retinal Degeneration | Escs Gfs | Nr2e3 Gene | Cone Syndrome |
Unrelated patients with achromatopsia, macular degeneration with onset under age 50 years, cone degeneration or dysfunction, cone-rod degeneration, or macular malfunction were screened for mutations in the three genes known to be associated with achromatopsia: the GNAT2 gene encoding the alpha subunit of cone transducin and the CNGA3 and CNGB3 genes encoding the alpha and beta subunits of the cone cGMP-gated cation channel. We found no examples of patients with GNAT2 mutations. Out of 36 ...
| Known for Macular Degeneration | Patients Achromatopsia | Cngb3 Mutations | Color Vision | Amino Acid |
We used the serial analysis of gene expression (SAGE) technique to catalogue and measure the relative levels of expression of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium (RPE) from one or both of two humans, aged 88 and 44 years. The cone photoreceptor contribution to all transcription in the retina was found to be similar in the macula versus the retinal periphery, whereas the rod contribution was greater in the periphery versus the macula. ...
| Known for Serial Analysis | Peripheral Retina | Genes Expressed | Pigment Epithelium | Eye Rna |
Disease Course of Patients with X-linked Retinitis Pigmentosa due to RPGR Gene Mutations
[ PUBLICATION ]
PURPOSE: To measure the rates of visual acuity, visual field, and ERG loss in patients with X-linked retinitis pigmentosa due to RPGR mutations and to determine whether these rates differ from those of patients with dominant retinitis pigmentosa due to RHO mutations.
METHODS: Snellen visual acuities, Goldmann visual field areas (V4e white test light), and 30 Hz (cone) full-field ERG amplitudes were recorded for an average of 9.8 years in 113 patients with RPGR mutations. After censoring ...
| Known for Visual Acuity | Retinitis Pigmentosa | Rpgr Mutations | Rho Patients | Legal Blindness |
Alleles in the HtrA Serine Peptidase 1 Gene Alter the Risk of Neovascular Age-Related Macular Degeneration
[ PUBLICATION ]
OBJECTIVE: To examine if the genes encoding the pleckstrin homology domain-containing protein gene (PLEKHA1), hypothetical LOC387715/ARMS2 gene, and HtrA serine peptidase 1 gene (HTRA1) located on the long arm of chromosome 10 (10q26 region) confer risk for neovascular age-related macular degeneration (AMD) in an independent or interactive manner when controlling for complement factor H gene (CFH) genotype and smoking exposure.
DESIGN: Retrospective matched-pair case-control ...
| Known for Serine Peptidase | Macular Degeneration | Risk Amd | Neovascular Age | 10q26 Region |
Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa
[ PUBLICATION ]
Mutations in the genes encoding two proteins of the retinal rod phototransduction cascade, opsin and the beta subunit of rod cGMP phosphodiesterase, cause retinitis pigmentosa (RP) in some families. Here we report defects in a third member of this biochemical pathway in still other patients with this disease. We screened 94 unrelated patients with autosomal dominant RP and 173 unrelated patients with autosomal recessive RP for mutations in the gene encoding the alpha subunit of the rod ...
| Known for Alpha Subunit | Recessive Retinitis | Rod Cgmp | Gated Channel | Mutations Gene |
A Novel Mutation (I143NT) in Guanylate Cyclase-Activating Protein 1 (GCAP1) Associated with Autosomal Dominant Cone Degeneration
[ PUBLICATION ]
PURPOSE: To identify pathogenic mutations in the guanylate cyclase-activating protein 1 (GCAP1) and GCAP2 genes and to characterize the biochemical effect of mutation on guanylate cyclase (GC) stimulation.
METHODS: The GCAP1 and GCAP2 genes were screened by direct sequencing for mutations in 216 patients and 421 patients, respectively, with various hereditary retinal diseases. A mutation in GCAP1 segregating with autosomal dominant cone degeneration was further evaluated biochemically by ...
| Known for Guanylate Cyclase | Dominant Cone | Activating Protein | Gcap1 Mutation | Retinal Degeneration |
Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy
[ PUBLICATION ]
BACKGROUND: Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessively inherited disorder characterised by tiny yellowish glittering retinal crystals, choroidal sclerosis, and crystals in the peripheral cornea, associated with progressive night blindness. CYP4V2, encoding a member of cytochrome p450 (CYP450) protein family, was recently identified as the causative gene.
METHODS: We recruited 11 unrelated patients with BCD and characteristic clinical features; eight of ...
| Known for Cyp4v2 Gene | Corneoretinal Dystrophy | Bietti Crystalline | Patients Bcd | Cytochrome P450 |
